| - GRCh37:
- Chr3:184070586
- GRCh38:
- Chr3:184352798
| CLCN2 | S675L, S702L, S719L | not specified, Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184073583
- GRCh38:
- Chr3:184355795
| CLCN2 | | not provided, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
Epilepsy, idiopathic generalized, susceptibility to, 11 | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071221
- GRCh38:
- Chr3:184353433
| CLCN2 | | not provided, Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
Familial hyperaldosteronism type II | Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075663
- GRCh38:
- Chr3:184357875
| CLCN2 | | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075952
- GRCh38:
- Chr3:184358164
| CLCN2 | | Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
not provided | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075454
- GRCh38:
- Chr3:184357666
| CLCN2 | | not provided, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
Epilepsy, idiopathic generalized, susceptibility to, 11 | Benign/Likely benign
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184072062
- GRCh38:
- Chr3:184354274
| CLCN2 | | not provided, Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Likely benign
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071977
- GRCh38:
- Chr3:184354189
| CLCN2 | A501T, A545T, A528T | Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II,
not provided, See cases | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071920
- GRCh38:
- Chr3:184354132
| CLCN2 | Y564H, Y547H, Y520H | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071512
- GRCh38:
- Chr3:184353724
| CLCN2 | R581Q, R598Q, R554Q | Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
not provided | Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071895
- GRCh38:
- Chr3:184354107
| CLCN2 | R572H, R528H, R555H | not provided, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
Epilepsy, idiopathic generalized, susceptibility to, 11 | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184073274
- GRCh38:
- Chr3:184355486
| CLCN2 | T361M, T405M | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184064449
- GRCh38:
- Chr3:184346661
| CLCN2 | R852H, R837H, R864H, R881H | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Uncertain significance
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184076829
- GRCh38:
- Chr3:184359041
| CLCN2 | P52S | not provided, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
Epilepsy, idiopathic generalized, susceptibility to, 11 | Uncertain significance
(Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184064468
- GRCh38:
- Chr3:184346680
| CLCN2 | L831V, L846V, L858V, L875V | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II,
Epilepsy, idiopathic generalized, susceptibility to, 11 | Uncertain significance
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184072010
- GRCh38:
- Chr3:184354222
| CLCN2 | V490L, V517L, V534L | not provided, Inborn genetic diseases, Epilepsy, idiopathic generalized, susceptibility to, 11,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II | Uncertain significance
(May 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184064726
- GRCh38:
- Chr3:184346938
| CLCN2 | | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075588-184075592
- GRCh38:
- Chr3:184357800-184357804
| CLCN2 | L179fs, L223fs | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
Epilepsy, idiopathic generalized, susceptibility to, 11, not provided | Pathogenic/Likely pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184072093
- GRCh38:
- Chr3:184354305
| CLCN2 | A462V, A489V, A506V | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Uncertain significance
(Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075149
- GRCh38:
- Chr3:184357361
| CLCN2 | | Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II,
not provided | Likely pathogenic
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071108
- GRCh38:
- Chr3:184353320
| CLCN2 | R609T, R636T, R653T | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Likely benign
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184074880-184074881
- GRCh38:
- Chr3:184357092-184357093
| CLCN2 | I329fs, I285fs | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Pathogenic
(Mar 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184072447
- GRCh38:
- Chr3:184354659
| CLCN2 | | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Pathogenic
(Jan 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184075461
- GRCh38:
- Chr3:184357673
| CLCN2 | L196P, L240P | not provided, See cases, Familial hyperaldosteronism type II,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11 | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184070813
- GRCh38:
- Chr3:184353025
| CLCN2 | | Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
not provided | Likely benign
(Aug 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184072352
- GRCh38:
- Chr3:184354564
| CLCN2 | | not provided, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
Epilepsy, idiopathic generalized, susceptibility to, 11 | Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184073511
- GRCh38:
- Chr3:184355723
| CLCN2 | P337A, P381A | not provided, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II,
Epilepsy, idiopathic generalized, susceptibility to, 11, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:184075169
- GRCh38:
- Chr3:184357381
| CLCN2 | | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II,
not provided | Likely benign
(Sep 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184073524
- GRCh38:
- Chr3:184355736
| CLCN2 | | not provided, Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Benign/Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075017
- GRCh38:
- Chr3:184357229
| CLCN2 | | Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
not provided | Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184076605
- GRCh38:
- Chr3:184358817
| CLCN2 | | not provided, Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184076609
- GRCh38:
- Chr3:184358821
| CLCN2 | | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II,
not provided | Likely benign
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075588
- GRCh38:
- Chr3:184357800
| CLCN2 | | Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II,
not provided | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184069792
- GRCh38:
- Chr3:184352004
| CLCN2 | | Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184070223
- GRCh38:
- Chr3:184352435
| CLCN2 | | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11,
not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184075850
- GRCh38:
- Chr3:184358062
| CLCN2 | R172Q, R128Q | Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II
| Pathogenic
(Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184069794-184069795
- GRCh38:
- Chr3:184352006-184352007
| CLCN2 | | Epilepsy, idiopathic generalized, susceptibility to, 11, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
not provided | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184069830
- GRCh38:
- Chr3:184352042
| CLCN2 | Q796*, Q752*, Q779* | not provided | Likely pathogenic
(Sep 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184071109
- GRCh38:
- Chr3:184353321
| CLCN2 | R653*, R636*, R609* | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184071510
- GRCh38:
- Chr3:184353722
| CLCN2 | D599N, D555N, D582N | not specified, not provided | Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184072336
- GRCh38:
- Chr3:184354548
| CLCN2 | G503R, G459R, G486R | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184072420-184072421
- GRCh38:
- Chr3:184354632-184354633
| CLCN2 | E475fs, E431fs | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184072431
- GRCh38:
- Chr3:184354643
| CLCN2 | R471H, R427H | not provided | Likely pathogenic
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184072446
- GRCh38:
- Chr3:184354658
| CLCN2 | G466E, G422E | not provided | Uncertain significance
(Nov 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184073184
- GRCh38:
- Chr3:184355396
| CLCN2 | L391fs, L435fs | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184073509
- GRCh38:
- Chr3:184355721
| CLCN2 | G382fs, G338fs | not provided | Pathogenic
(Jan 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184073539
- GRCh38:
- Chr3:184355751
| CLCN2 | S331fs, S375fs | CLCN2-Related Disorders | Pathogenic
(May 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184074851
- GRCh38:
- Chr3:184357063
| CLCN2 | V339L, V295L | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184075028
- GRCh38:
- Chr3:184357240
| CLCN2 | R309*, R265* | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184076530
- GRCh38:
- Chr3:184358742
| CLCN2 | G98R | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184075621-184078026
- GRCh38:
- Chr3:184357833-184360238
| CLCN2 | | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184070112
- GRCh38:
- Chr3:184352324
| CLCN2 | A760V, A743V, A716V | Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
not provided | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184070118
- GRCh38:
- Chr3:184352330
| CLCN2 | S758N, S741N, S714N | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184070262
- GRCh38:
- Chr3:184352474
| CLCN2 | R747H, R703H, R730H | not provided | Likely benign
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184070569
- GRCh38:
- Chr3:184352781
| CLCN2 | R725W, R681W, R708W | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, not provided | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184070588
- GRCh38:
- Chr3:184352800
| CLCN2 | E718D, E701D, E674D | not specified, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184070901
- GRCh38:
- Chr3:184353113
| CLCN2 | R688Q, R644Q, R671Q | not provided, not specified | Benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071063
- GRCh38:
- Chr3:184353275
| CLCN2 | T668S, T624S, T651S | not provided | Benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184071129
- GRCh38:
- Chr3:184353341
| CLCN2 | R646Q, R602Q, R629Q | not provided, Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Likely benign
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071136
- GRCh38:
- Chr3:184353348
| CLCN2 | R644C, R600C, R627C | Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11, Leukoencephalopathy with mild cerebellar ataxia and white matter edema,
not provided | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071213
- GRCh38:
- Chr3:184353425
| CLCN2 | | not provided | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:184075769
- GRCh38:
- Chr3:184357981
| CLCN2 | G199A, G155A | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184076576
- GRCh38:
- Chr3:184358788
| CLCN2 | F82L | not provided, not specified | Conflicting interpretations of pathogenicity
(Mar 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:184076765
- GRCh38:
- Chr3:184358977
| CLCN2 | R73H | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, not provided, not specified
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:184076780
- GRCh38:
- Chr3:184358992
| CLCN2 | R68H | not provided | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184076840
- GRCh38:
- Chr3:184359052
| CLCN2 | P48R | not provided | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184076853
- GRCh38:
- Chr3:184359065
| CLCN2 | G44R | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not provided | no assertion provided |
| - GRCh37:
- Chr3:184075219-184075220
- GRCh38:
- Chr3:184357431-184357432
| CLCN2 | R233fs, R277fs | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Pathogenic
(Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:184072344
- GRCh38:
- Chr3:184354556
| CLCN2 | A500V, A483V, A456V | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Pathogenic
(Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:184076016-184076021
- GRCh38:
- Chr3:184358228-184358233
| CLCN2 | | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Pathogenic
(Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:184071901
- GRCh38:
- Chr3:184354113
| CLCN2 | W570*, W553*, W526* | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized, susceptibility to, 11,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, not provided | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:184071575
- GRCh38:
- Chr3:184353787
| CLCN2 | R577Q, R560Q, R533Q | not provided, Cerebral palsy | Conflicting interpretations of pathogenicity
(Dec 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:184075476
- GRCh38:
- Chr3:184357688
| CLCN2 | R235Q, R191Q | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized, susceptibility to, 11,
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, not provided, Epilepsy, idiopathic generalized, susceptibility to, 11
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:184070598
- GRCh38:
- Chr3:184352810
| CLCN2 | G715E, G671E, G698E | Epilepsy, juvenile absence 2 | Uncertain significance
(Sep 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr3:184076605-184076615
- GRCh38:
- Chr3:184358817-184358827
| CLCN2 | | not provided | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:184075767-184075768
- GRCh38:
- Chr3:184357979-184357980
| CLCN2 | M156fs, M200fs | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, juvenile myoclonic 8 | Conflicting interpretations of pathogenicity
(Sep 9, 2015) | no assertion criteria provided |